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More than 20 Years of the Discovery of Park2
Neuroscience Research ( IF 2.9 ) Pub Date : 2020-10-01 , DOI: 10.1016/j.neures.2020.02.002
Yoshikuni Mizuno 1
Affiliation  

Discovery of Park2 is our finding of a family of young onset parkinsonism, in which this family was thought to be associated with a polymorphism of the manganese superoxide gene. The gene locus of the manganese superoxide dismutase has been known. We were able to pick up a gene for this family and related families in the close approximate position at the long arm of chromosome 6. The gene for this disease has a ubiquitin-like motif in the N-terminus and two RING finger structures. It was shown that this gene had a ubiquitin-protein ligase activity. But it is not elucidated the substrate of this enzyme. Meanwhile, it has become clear that PINK1 and Parkin work together to remove the mitochondria of the lowered membrane potential in the autophagosomes (mitophagy). Now that the molecular mechanisms of mitophagy is under investigation. In addition, many hot topics are going on such as Lewy body in Park2, single heterozygotes, rare clinical manifestations, and so on.

中文翻译:

Park2发现20多年

Park2 的发现是我们对一个年轻发作的帕金森氏症家族的发现,其中该家族被认为与锰超氧化物基因的多态性有关。锰超氧化物歧化酶的基因座是已知的。我们能够在 6 号染色体长臂的近似位置找到该家族和相关家族的基因。该疾病的基因在 N 端具有泛素样基序和两个无名指结构。结果表明,该基因具有泛素-蛋白质连接酶活性。但并未阐明该酶的底物。同时,很明显 PINK1 和 Parkin 共同作用以去除自噬体(线粒体自噬)中膜电位降低的线粒体。现在,线粒体自噬的分子机制正在研究中。此外,
更新日期:2020-10-01
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